Samantha's story

When Samantha was showing signs of jaundice, lethargy and a distended stomach at 5 days old, her mum Stefania and grandmother knew exactly what was wrong.

Hirschsprung’s Disease is a rare bowel disease where some nerve cells are missing in the muscles of the large intestine (colon). It means that the intestine can’t pass stool and it can become blocked. It’s a condition that Stefania has had her whole life, and they suspected that Samantha also had the condition.

They rushed Samantha to the Emergency Department at Princess Margaret Hospital, and the treating doctor in ED who had also treated Stefania as a child was similarly convinced that Samantha had Hirschsprung’s Disease.

After a barium x-ray (an x-ray that allows for the bowel to be examined using a white powder called barium) and a bowel biopsy, Samantha was diagnosed with short segment Hirschsprung’s Disease and was booked for surgery with Dr Liz.

At 11 days old, Samantha had a 30cm piece of her bowel removed. Thankfully, she did not need a colostomy bag (a bag that collects stool from the intestine through an opening in the abdomen called a stoma), which is what Stefania has to manage her disease.

The first four years of Samantha’s life were challenging, trying to find food and drinks that wouldn’t upset her stomach.

But today, at 12 years old, Samantha is thriving. She is a competitive swimmer, swimming six days a week and having personal training sessions.

She checks in annually at PCH, seeing Dr Liz and Nurse Kerry. “They both talk to Samantha and ask her what’s going with her own body. Samantha loves it because she feels included.” says Stefania.

“We are so grateful for how Samantha’s life has been with Hirschsprung’s Disease, because we expected her to experience what I have with the same disease.” says Stefania. But Samantha has done very well with her condition so far and is not letting it hold her back, much to her mum’s relief.